PraderWiliszindróma

PraderWiliszindróma is a complex genetic disorder that affects many parts of the body. It is present from birth and is characterized by a range of physical, intellectual, and behavioral issues. One of the most prominent features is a constant feeling of hunger, which can begin in early childhood. This relentless appetite often leads to overeating and obesity if not managed carefully.

Individuals with PraderWiliszindróma typically have distinctive facial features, including a narrow forehead, almond-shaped eyes, and a thin upper lip. They may also experience problems with growth, often being shorter than average. Muscle tone is usually low at birth, a condition known as hypotonia, which can affect motor development and can improve over time.

Intellectual disability is common, though the severity can vary widely among affected individuals. Learning difficulties are present, and many require specialized educational support. Behavioral problems are also a significant aspect of the syndrome, including temper tantrums, obsessive-compulsive behaviors, and stubbornness.

The exact cause of PraderWiliszindróma is a genetic defect on chromosome 15. This genetic alteration disrupts normal development, leading to the various symptoms. Diagnosis is usually made based on clinical evaluation and confirmed with genetic testing. While there is no cure for PraderWiliszindróma, early diagnosis and comprehensive management, including dietary control, hormone therapy, and behavioral interventions, can significantly improve the quality of life for those affected.

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